A25A (p.Ala25Ala) variant of BMPR2 (Q13873)
A25A (p.Ala25Ala) in BMPR2 (Q13873) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A25A (p.Ala25Ala) variant details
- p.Ala25Ala
- rs748943218
- gnomAD 2-202377549-T-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 15.40
- Population evidence available
- Structural context available
- Literature evidence available